Name: [Hs00022666_cn] [PKLR]
Creator: Thermo Fisher Scientific
Keywords: [PKLR] Assay, [pyruvate kinase, liver and RBC] Assay

Genomic Map

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Assay Details

Entrez Gene ID:	5313
Gene Name:	pyruvate kinase, liver and RBC
Gene Aliases:	PK1, PKL, PKR, PKRL, RPK
Location:	Chr.1:155289293-155301434 on Build GRCh38
Assay Gene Location:	Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKLR	NM_000298.5	11	1888	NP_000289.1
	NM_181871.3	11	1870	NP_870986.1
	XM_006711386.3	11	1803	XP_006711449.1
	XM_011509640.2	11	1825	XP_011507942.1
	AB015983.1	11	1888	BAA31706.1
	AK225947.1	11	1870
	AK298399.1
	BC025737.1	11	1874	AAH25737.1
	M15465.1	11	1824	AAA60104.1

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv3032	Chr.1:155285619 - 155318185 on Build GRCh38	Insertion	LOC105371451 PKLR HCN3 FDPS
nsv831636	Chr.1:155249432 - 155475073 on Build GRCh38	Loss	LOC105371451 RUSC1 MIR555 POU5F1P4 PKLR SCAMP3 HCN3 ASH1L FAM189B RUSC1-AS1 CLK2 FDPS
esv33869	Chr.1:155253492 - 155948170 on Build GRCh38	Loss	SCARNA26A RXFP4 SCARNA26B ASH1L-AS1 KIAA0907 DAP3 SCAMP3 HCN3 SYT11 RUSC1-AS1 YY1AP1 LOC100505728 RIT1 RUSC1 MIR555 POU5F1P4 ASH1L FAM189B GON4L SNORA80E CLK2 MSTO2P MSTO1 LOC105371451 SCARNA4 PKLR FDPS ARHGEF2
nsv436027	Chr.1:155260761 - 155291532 on Build GRCh38	Insertion	PKLR SCAMP3 HCN3 CLK2
nsv952214	Chr.1:155279610 - 155304509 on Build GRCh38	Deletion	PKLR HCN3
esv2758971	Chr.1:155122502 - 155345016 on Build GRCh38	Gain	GBAP1 MTX1 RUSC1 THBS3 MUC1 ASH1L FAM189B KRTCAP2 CLK2 DPM3 SLC50A1 LOC105371451 PKLR SCAMP3 HCN3 RUSC1-AS1 TRIM46 MIR92B EFNA1 FDPS GBA
esv23319	Chr.1:155257268 - 155292883 on Build GRCh38	Gain	PKLR SCAMP3 HCN3 CLK2

Intragenic

Exonic

DGV Variation

kinase

Function(s) Process(es)